“Don’t Tell Anyone”: A Sociocultural Analysis of the Diagnosis and Clinical Management of 47, XXY/Klinefelter Syndrome

Abstract

This dissertation explores the consolidation of 47,XXY/Klinefelter Syndrome (KS) into a modern diagnostic category, looking specifically at the implications of biomedicalization on the social experience of adults with 47,XXY/KS and parents of children with 47,XXY/KS. First described as a hormonal syndrome in 1942 by Harry F. Klinefelter, 47,XXY/KS has subsequently been identified as a sex chromosome aneuploidy (SCA) characterized by the presence of two or more X chromosomes in addition to a Y chromosome. The symptomology of KS can vary significantly and includes gynecomastia (breast enlargement), hypogonadism (decreased testosterone production), small testes, infertility, long limbs/stature, learning disabilities, and delayed speech and language development. In the mid-to-late twentieth century, the majority of social scientific research on 47,XXY/KS focused on understanding its proposed psychopathology, labeling 47,XXY men as “sex-reversal,” “sexually deviant,” and biologically predisposed to “criminality.” More recently, some medical centers have endeavored to provide specialized healthcare for individuals diagnosed with 47,XXY/KS, working alongside advocacy organizations in pushing back against these highly stigmatizing accounts. Despite being one of the most common chromosome variations among humans, there is currently a pervasive lack of awareness about 47,XXY/KS even among the majority of healthcare providers, substantially shaping social experiences related to its diagnosis and treatment. My dissertation incorporates a transdisciplinary set of theoretical and methodological frameworks in understanding the consolidation of KS into a diagnostic category and the impact of medicalization on social experience, especially related to gender and sexuality. For my project, I have interviewed 29 participants who are adults with KS, parents of children with KS, and healthcare providers specializing in the diagnosis/treatment of KS. I couple these accounts with a genealogical analysis of medical approaches to KS since its “discovery” in 1942, including an examination of the racialized and gendered underpinnings of endocrinological and genetic science. Centering the voices and embodied experiences of individuals with a KS diagnosis, I work to foreground alternative sites of knowledge production that have been traditionally excluded from mainstream biomedicine. In doing so, I explore the ways in which these counter-narratives both interpellate and resist dominant discourses on KS, in turn impacting individuals’ experiences of having received a diagnosis of KS. Beyond revealing information about the current status of variations of sexual development (VSD) healthcare in the United States, I argue that all of these perspectives matter – which is to say, I believe that they all come to figure in shaping contemporary understandings of 47,XXY/KS as much as – and in direct relationship to – traditional biomedical research and practice. Both implicitly and explicitly, patients and parents directly partake in producing knowledge on 47,XXY/KS within and outside of the clinical context.